NCIt synonyms : Dystrophia Myotonica Protein Kinase Gene; MDPK; DM1 Protein Kinase wt Allele; DM Protein Kinase Gene; MT-PK; DMK; Thymopoietin Homolog Gene; Myotonic Dystrophy Associated Protein Kinase Gene; DM1PK; DM1; Dystrophia Myotonica 1 (Includes Dystrophia Myotonia Protein Kinase) Gene; DM; Myotonin Protein Kinase A Gene; Dystrophia Myotonica 1 Gene;
NCIt definition : Human DMPK wild-type allele is located in the vicinity of 19q13.32 and is approximately
13 kb in length. This allele, which encodes myotonin-protein kinase protein, plays
a role in protein kinase pathway-mediated regulation of the expression of muscle-specific
genes. A heterozygous trinucleotide repeat expansion of (CTG)n in the 3-prime untranslated
region of the gene is associated with myotonic dystrophy 1.;
OMIM relation